MCID: SYN063
MIFTS: 26

Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

MalaCards integrated aliases for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

Name: Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 57 75 40 73
Syndactyly Type 9 53 59 29 6
Mssd 57 53 59 75
Syndactyly, Malik-Percin Type 57 59 75
Syndactyly, Type Ix 57 75
Syndactyly Mesoaxial Synostotic with Phalangeal Reduction 53
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction 59
Mesoaxial Synostotic Syndactyly, Malik-Percin Type 75
Syndactyly Malik-Percin Type 53

Characteristics:

Orphanet epidemiological data:

59
mesoaxial synostotic syndactyly with phalangeal reduction
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
feet are unaffected in some patients
some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes


HPO:

32
syndactyly, mesoaxial synostotic, with phalangeal reduction:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609432
Orphanet 59 ORPHA157801
UMLS via Orphanet 74 C1836206
ICD10 via Orphanet 34 Q70.0 Q70.2
MedGen 42 C1836206
MeSH 44 D013576
UMLS 73 C1836206

Summaries for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 157801Disease definitionMesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.EpidemiologyIt has been described in two families.EtiologyThe locus for this complex limb malformation was mapped to chromosome 17p13.3.Genetic counselingThe condition is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction, is also known as syndactyly type 9. An important gene associated with Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Affiliated tissues include bone and skin, and related phenotypes are finger syndactyly and short palm

OMIM : 57 Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). (609432)

UniProtKB/Swiss-Prot : 75 Syndactyly, mesoaxial synostotic, with phalangeal reduction: An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes.

Related Diseases for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Symptoms & Phenotypes for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
fifth finger clinodactyly
bilateral transverse palmar creases
four fingers on each hand
complete syndactyly/synostosis of 3rd-4th fingers
aplasia/hypoplasia of thumbs
more
Skin Nails Hair Skin:
distorted triradii of palmar skin
decreased flexion creases

Skeletal Feet:
aplasia/hypoplasia of halluces
complete or partial syndactyly
hypoplasia of distal and middle phalanges
hallucal symphalangism

Skin Nails Hair Nails:
hypoplastic nails of some affected fingers and toes


Clinical features from OMIM:

609432

Human phenotypes related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
2 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
3 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
4 short hallux 59 32 hallmark (90%) Very frequent (99-80%) HP:0010109
5 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
6 symphalangism affecting the phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009773
7 2-3 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0004691
8 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
9 aplasia/hypoplasia of the hallux 59 32 Very frequent (99-80%) HP:0008362
10 metacarpal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0009701
11 aplasia/hypoplasia of the middle phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009843
12 toe syndactyly 59 Very frequent (99-80%)
13 aplasia/hypoplasia of the thumb 32 HP:0009601
14 single transverse palmar crease 32 HP:0000954
15 3-4 finger syndactyly 32 HP:0006097
16 aplasia/hypoplasia of the middle phalanx of the 2nd finger 32 HP:0009568
17 aplasia/hypoplasia of the middle phalanx of the 5th finger 32 HP:0009161
18 proximal/middle symphalangism of 5th finger 32 HP:0009177
19 symphalangism affecting the phalanges of the hallux 32 HP:0010064

Drugs & Therapeutics for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Search Clinical Trials , NIH Clinical Center for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Genetic Tests for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Genetic tests related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

# Genetic test Affiliating Genes
1 Syndactyly Type 9 29 BHLHA9

Anatomical Context for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

MalaCards organs/tissues related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

41
Bone, Skin

Publications for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Articles related to Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

# Title Authors Year
1
A novel homozygous missense mutation in<i>BHLHA9</i>causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family. ( 29263794 )
2017
2
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. ( 27041388 )
2016
3
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. ( 25466284 )
2014
4
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. ( 15779011 )
2005

Variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

75
# Symbol AA change Variation ID SNP ID
1 BHLHA9 p.Asn71Asp VAR_073333 rs672601337
2 BHLHA9 p.Arg73Pro VAR_073334 rs672601338
3 BHLHA9 p.Arg75Leu VAR_073335 rs672601339

ClinVar genetic disease variations for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BHLHA9 NM_001164405.1(BHLHA9): c.211A> G (p.Asn71Asp) single nucleotide variant Pathogenic rs672601337 GRCh38 Chromosome 17, 1270774: 1270774
2 BHLHA9 NM_001164405.1(BHLHA9): c.211A> G (p.Asn71Asp) single nucleotide variant Pathogenic rs672601337 GRCh37 Chromosome 17, 1174068: 1174068
3 BHLHA9 NM_001164405.1(BHLHA9): c.218G> C (p.Arg73Pro) single nucleotide variant Pathogenic rs672601338 GRCh38 Chromosome 17, 1270781: 1270781
4 BHLHA9 NM_001164405.1(BHLHA9): c.218G> C (p.Arg73Pro) single nucleotide variant Pathogenic rs672601338 GRCh37 Chromosome 17, 1174075: 1174075
5 BHLHA9 NM_001164405.1(BHLHA9): c.224G> T (p.Arg75Leu) single nucleotide variant Pathogenic rs672601339 GRCh38 Chromosome 17, 1270787: 1270787
6 BHLHA9 NM_001164405.1(BHLHA9): c.224G> T (p.Arg75Leu) single nucleotide variant Pathogenic rs672601339 GRCh37 Chromosome 17, 1174081: 1174081

Expression for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Search GEO for disease gene expression data for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction.

Pathways for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

GO Terms for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

Sources for Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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